Our Wonder Drug

Emily has had a difficult life dealing with Cystic Fibrosis every day. She was born on Friday, the 13th of January, 1984.  At two days of age, she had to be moved from the hospital I was in after a C-Section to the Yale New Haven NICU.  At three days of age, she required surgery to clear her bowels. She was diagnosed with Meconium Ileus which is usually a symptom of Cystic Fibrosis.  At six months of age, she was sweat tested to check her sodium levels. 40 would be a negative result, 40-60 would be borderline and over 60 would mean Cystic Fibrosis.  Her results came in at 106.

Cystic Fibrosis, at that time, was a listed as a fatal disease which affected the cells that make mucus, sweat and digestive juices. Bodily fluids are usually thin, but in kids with CF, a defective gene causes the secretions to become sticky and thick. The secretions plug up the entire body system, attacking specifically the lungs and pancreas

From then on, medicine became a daily thing for her.  Meds in the morning, noon and at night. When she ate, she required enzymes. Nebulizer treatments two or three times a day.

And physical therapy which we called “beating the baby”. We had to pound on her chest, back and sides to help loosen the thick mucus in her lungs so she could cough it out.

She coughed all the time with no ability to control the cough. It was her body’s way of expelling the mucus. She would tire easily. Hot summer days and cold winter days were a nightmare because her lungs wouldn’t tolerate the temperature changes very well. She sweat out 10 times more salt than the average person so she required salt pills and she heavily salted everything she ate. Her pizza always looked like it had been snowed on.

Her medications cost approximately $2700 a month which luckily was mostly covered by our health insurance. With this ridiculous cost, we often wondered what families without insurance did.

She was a poster child for the State of Connecticut so we attended and organized many fund raising events. Over the years, our extended families and friends helped raise money for research.

Her medications consisted of an enzyme to replicate what the pancreas didn’t make. Vitamins that were water soluble including vitamin C and the B-complex vitamins, folic acid, biotin, and pantothenic acid.  An inhaled drug called Pulmozyme which worked by reducing airway mucus, reducing its thickness and helping clear the airways. The side effects of this drug included voice changes, sore throat, rash, chest pain, and eye irritation, but it was better than the alternative of her not being able to clear her airways.

When Emily was 5, doctors at the University of Michigan isolated the gene for cystic fibrosis and identified a faulty protein. This could and would lead to more drugs being developed, new treatments and medications improving the quality of life and extending life expectancy for kids with CF.

This was outstanding celebratory news, but by the time she was 21, there was still no medication specific to treating CF symptoms. All the drugs she now took were preventative to help reduce hospitalizations, lung infections, ER visits, and to help her maintain a healthy weight.

Over the years, her drugs have changed as she grew and more medications for CF became available.  In October 2019, a new drug was released called Trikfata.  Scientists took four other drugs for CF, tweaked them and Trikafta was born. 

Emily has now been taking Trikafta for seven years and she is like a new person.  If you didn’t know her, you wouldn’t know she has CF.  No coughing, very few hospital visits and she can do things she has never been able to do.  She walks her dog three miles a day. She dug a trench in her back yard. She planted a tree and she gardens every day. She has become a therapist and works online with her client list which is increasing every day.

Trikafta came from the researcher’s knowledge of science and CF and has changed the world for adults with CF like Emily and those being born now.  Instead of maybe seeing their 18th birthday, they now have a much greater chance of living into their 50’s and 60’s.

We like to think that all our fund raising efforts when she was 5 and 6 helped lead to the discovery of Trikafta, our wonder drug.